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DOID:0060794 - hypomyelinating leukodystrophy 7
Disease Ontology Definition:A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hildhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has_material_basis_in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22.
Synonyms: ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy, dentoleukoencephalopathy, HLD7, hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome, leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome, TACH syndrome, tremor-ataxia-central hypomyelination syndrome, leukodystrophy with oligodontia
Echinobase Genes
:
polr3a
| MIM:607694 - leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism; hld7 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee